المؤلفون: Máire Ní Leathlobhair, Anna Frangou, Ben Kinnersley, Alex J. Cornish, Daniel Chubb, Eszter Lakatos, Prabhu Arumugam, Andreas J. Gruber, Philip Law, Avraam Tapinos, G. Maria Jakobsdottir, Iliana Peneva, Atef Sahli, Evie M. Smyth, Richard Y. Ball, Rushan Sylva, Ksenija Benes, Dan Stark, Robin J. Young, Alexander T. J. Lee, Vincent Wolverson, Richard S. Houlston, Alona Sosinsky, Andrew Protheroe, Matthew J. Murray, David C. Wedge, Clare Verrill, Testicular Cancer Genomics England Clinical Interpretation Partnership Consortium, Genomics England Research Consortium

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/3166ff5b046047609d385f398ae3f157

المؤلفون: Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee

المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Childhood glaucoma, Congenital glaucoma, Genetic eye disorders, Developmental eye diseases, Whole genome sequencing, Genomics, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/e2c6b48b358d4b7280a344ea20c61379

المؤلفون: Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/38cbf5e245e84d6bb6d38d770e602435

المؤلفون: Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)

مصطلحات موضوعية: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff

المؤلفون: S Hayward, J Norton, L Bownass, C Platt, Genomics England Research Consortium, H Campbell, E Watson, N Forrester, S Smithson, A Menon

المصدر: BMC Nephrology, Vol 24, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Dent’s disease, Genetics, Nephrocalcinosis, Proteinuria, CLCN5, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/61dc7d97a71f4b9583bde86e5fadaa73

المؤلفون: Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, Genomics England Research Consortium, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: Cancer genomics, Precision cancer medicine, Machine learning, Deep learning, Tumour type prediction, Molecular tumour subtyping, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/730acb3c4102481e9811096b8be5e8e5

المؤلفون: Philippa C. May, Alistair G. Reid, Mark E. Robinson, Jamshid S. Khorashad, Dragana Milojkovic, Simone Claudiani, Genomics England Research Consortium, Fenella Willis, Jane F. Apperley, Andrew J. Innes

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Cryptic, Myeloid, Fusion gene, False negative, BCR:ABL1, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/f85d21b246fc4b9b8bc8d9bf80a5c7e5

المؤلفون: Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

المصدر: EMBO Molecular Medicine, Vol 15, Iss 5, Pp 1-21 (2023)

مصطلحات موضوعية: Bloom syndrome, mitochondrial disease, mtDNA, TOP3A, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4

المؤلفون: Victor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, Genomics England Research Consortium, Frauke Coppieters, Miriam Bauwens, Andy Willaert, Elfride De Baere

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-1 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/71dc04aaf10049c79f8782552148860f

المؤلفون: Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61

المؤلفون: William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14

المؤلفون: Nirmal Vadgama, Mohamed Ameen, Laksshman Sundaram, Sadhana Gaddam, Genomics England Research Consortium, Casey Gifford, Jamal Nasir, Ioannis Karakikes

المصدر: Human Genomics, Vol 16, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: Cardiomyopathy, Single-cell, Noncoding, De novo, Regulome, Oligogenic, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/723d57d42e3b44b8b86eed680b99d853

المؤلفون: Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb

المؤلفون: Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun, Jacqueline K. White, Amie K. Creighton, Valerie Laurin, Ruolin Guo, Dawei Qu, Sara Wells, James Cleak, Rosie Bunton-Stasyshyn, Michelle Stewart, Jackie Harrisson, Jeremy Mason, Hamed Haseli Mashhadi, Helen Parkinson, Ann-Marie Mallon, International Mouse Phenotyping Consortium, Genomics England Research Consortium, Damian Smedley

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/412d46fbccfd45569d9db0ede072d45d

المؤلفون: William Cross, Iben Lyskjær, Tom Lesluyes, Steven Hargreaves, Anna-Christina Strobl, Christopher Davies, Sara Waise, Shadi Hames-Fathi, Dahmane Oukrif, Hongtao Ye, Fernanda Amary, Roberto Tirabosco, Craig Gerrand, Toby Baker, David Barnes, Christopher Steele, Ludmil Alexandrov, Gareth Bond, Genomics England Research Consortium, Paul Cool, Nischalan Pillay, Peter Van Loo, Adrienne M. Flanagan

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Chondrosarcoma, Sarcoma, Genetics, Genomics, Cancer evolution, IDH1, Medicine, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/ffacb8a0eb7048c79fcc4c60653e1002

المؤلفون: Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Repeat expansions, Short tandem repeats, Visualization, Short-read sequencing data, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/018b5e0870b648eca3506644f3e08453

المؤلفون: Peter H. Dixon, Adam P. Levine, Inês Cebola, Melanie M. Y. Chan, Aliya S. Amin, Anshul Aich, Monika Mozere, Hannah Maude, Alice L. Mitchell, Jun Zhang, NIHR BioResource, Genomics England Research Consortium Collaborators, Jenny Chambers, Argyro Syngelaki, Jennifer Donnelly, Sharon Cooley, Michael Geary, Kypros Nicolaides, Malin Thorsell, William M. Hague, Maria Cecilia Estiu, Hanns-Ulrich Marschall, Daniel P. Gale, Catherine Williamson

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f480b14d76d840a19e63ce9f638cd0fd

المؤلفون: Joel T. Gibson, Omid Sadeghi-Alavijeh, Daniel P. Gale, Hansjörg Rothe, Genomics England Research Consortium, Judy Savige

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/96c0043e8d0a42569e1be2e4cd114cf7

المؤلفون: Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704

المؤلفون: Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie, Honghan Wu, Genomics England Research Consortium

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Rare diseases, COVID-19 mortality, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4fcf3183b1fb485e893d991f336c48ed